Consults & Results

#heterotaxy #chd #raresyndromeawareness #nicu #amniocentesis #genetictesting

This photo is taken from the Memorial Health Savannah website and can be found as part of the NICU tour on their website. I do not own the rights to this photo.

In between our meetings with Sibley Heart in Albany and Children's Healthcare of Atlanta, we had a Neonatal Intensive Care Unit (NICU) consult and we received the last portion of our genetic results.

I should begin by saying that I have limited experience with a NICU because my nephews were born at 29 weeks in Jacksonville. However, every NICU is different, every neonatologist is different, and every hospital setting is different. For this reason, I was very glad that the High Risk OBs at Savannah Memorial see the need to set up these consults for patients who they know will have to spend some time there. This wasn't an optional meeting; this was part of my planned care as their patient. I am specifically so thankful for these meetings because it helps keep my expectations in line with reality. To me, this was the hardest thing about having our first daughter - expectations and reality. I had these lofty ideas of what was going to happen or what life with a newborn would look like, and they all just fell flat. This probably happens to a lot of people on some level, but it was even harder to me because I would look around and wonder..."why does no one else seem to be struggling as much as I am?" But that's a different post for a different day. I say all of that to say this: even though these meetings might bring up some scary "ifs," I would rather know them now than be knocked back by them later.

My husband and I got to our appointment on June 24, and we met with our perinatal navigator again, Sarah, and one of the neonatologists on staff, Dr. Ben Mackowiak (pronounced mack-oh-vee-ack). After exchanging pleasantries, we got to business. He went over Ruth's chart and everything that we know as of now, and what it meant for life in the NICU.

Ruth has Heterotaxy with Left Atrial Isomerism, which just refers to her specific anatomy, like her polysplenia, her AV Canal and interrupted inferior vena cava, and her swapped positioning of the stomach and liver, but LAI could also indicate some additional differences with her lungs, liver, and intestines.

Her lungs: Dr. M explained that, while we could see Ruth taking "practice breaths" in the womb (as all babies do), we really would not be able to tell her lung development, efficiency, and respiratory success until around a week old. Babies with Heterotaxy sometimes have two left lungs or bilobed lungs, so we would have to wait and see. We should expect her to be on some level of oxygen during our stay at the NICU, and they will constantly monitor her for this reason. Also, because of her heart difference, Ruth's lungs might be working overtime to breathe, so that we should be prepared for her oxygen saturation to be lower than an average, healthy baby - even when we bring her home. Because of this, she might literally look blue from time to time, but otherwise be perfectly fine. ...I mean typically when my child is blue, I turn to CPR, but it's good to know that this may be Ruth's normal. Regardless, ALL babies are learning to breathe in that first week of life, so we have to wait and see exactly what her normal will be before going home.

So I'm already hearing we're going to be there a week.

Her liver: The doctor explained that babies with Heterotaxy may also have some a problem known as "biliary atresia," which presents itself around 6 weeks after birth. This is an issue where the liver and the gallbladder have trouble communicating and getting rid of the body's bile. We would know if Ruth has this issue based on whether or not she has clay-like, white stools. You try not to laugh at the fact that a doctor has to tell you, "Hey, if your kid's bowel movements look like bird poop, there's a problem," but I'm glad we would know what the problem would be.

Her intestines: Mackowiak went on to explain that it's normal for kids with Heterotaxy to have malrotation in their intestines, and to sometimes need a surgical Ladd procedure to straighten it out. **We don't know if Ruth has this until after she is born, but based on her echogenic bowel on every sonogram, I do suspect something may be wrong.** He said most doctors do not preemptively test for this issue in babies, but that if something was wrong, it would present itself in the first few weeks. How will it present itself, you ask? If Ruth begins violent vomiting, then we would know she needs to have that malrotation fixed. Yeah...I am not going to wait until we're home, two hours away from the hospital, and have my kid begin to violently puke. I will FOR SURE be requesting a proactive dye test for malrotation while we are still in the hospital.

Also, due to her stomach positioning, paired with her heart difference and possible breathing difficulties, we should be prepared for Ruth to have a nasogastric (ng) tube. It is extremely common for kids with any CHD to need a feeding tube at some point during our stay because breathing and sucking and swallowing is difficult for their hearts to figure out. If Ruth falls asleep during bottle feeds (please keep in mind, this is different than a kid just being tired and falling asleep while eating), it'll be a sign she needs to go on or stay on her ng tube.

So, because of all of this, Ruth would need to be in the Level III area and beds, which is the highest that they offer at Savannah.

Side note: NICU levels range from I to IV. Level I is your basic hospital nursery, scaling to level IV with the highest intensive care. In Georgia, level IV NICUs are found in Augusta and Atlanta.

He did explain, however, that this did not mean that we would never get to hold Ruth or be with her. Because she will not be a micro-preemie, and her skin will be fully developed, we should still expect to be able to hold her as long as her potential feeding/breathing tubes allow.

"How long should we plan on being here, in Savannah, with Ruth in the NICU?" I asked. Dr. Mackowiak thought for a minute and said hesitantly, "I would pack for at least two weeks, but you may be here closer to a month. We won't know until she's here." This is where Sarah chimed in and explained that the NICU rules did recently change in this post-pandemic time, and that there were no strict visiting hours anymore. Parents could be at their child's side, 24/7. Grandparents could visit, as long as they are accompanied by either parent. Any siblings under 5, however, could not visit at all.

So let's take a beat and let this sink in. Alora can't meet Ruth until we break out of the hospital. Let's just say that that's fine; she'd probably be bored there anyway and want to pull out all of her wires, or wonder why the stat monitor wasn't playing Mickey Mouse. But how am we supposed to be parents in two places? Even if we stay at the Ronald McDonald House in Savannah, it's a bedroom and a bathroom in a huge house - not an apartment. Alora can't stay there by herself while we're with Ruth; grandparents can't even stay there with her while we're with Ruth. Technically, we could stay at an AirBnB (or the like) but they are expensive, especially considering that we'll be racking up bills at Chateau de NICU and have our existing bills at home. This meeting was almost a month ago and I still don't know what we're going to do. It's another "wait and see" situation. I am grateful, however, that this is Savannah. It's only Savannah. Kane and I could trade off and split shifts between Hoboken and Savannah to make sure both of our girls have adequate time with both of us. This is something we are still praying through, and believe God will give us the wisdom to tackle it when we get to that point.

Dr. M then went on to explain that I was going to be giving birth in one of their "theatre" rooms, and that he and his team would be there from the start. I think he said this to give me some reassurance and to calm me down, but all it did was send my anxiety through the roof. I blinked a few times and asked, "I'm sorry, did you say your team would be in delivery?" "Yes, quite a few of us will be there." APPARENTLY, there will be upwards of 15 people in the room (maybe more, I blacked out a little as he was telling me), including the neonatal team, my OB team, L&D team, pediatric team, and all of those departments' residents, and then Kane. I had to take a few deep breaths after this...

Then I asked him about expectations vs. reality immediately following birth. My only experience giving birth was with Alora, which was a very low risk situation. We were able to have that "golden hour" after delivery and Kane fed her a bottle and it was just us in the room for a while. Obviously, I knew things would be different this time, but I needed to know how different. Dr. Mackowiak explained that again, there's no way to know anything and set it in stone. However, if Ruth is breathing and crying like she should, I would get to hold her for a few minutes while they wipe her down; it wouldn't be an extended period, but I would get to hold her. I can live with that. And then because I am delivering in that theatre room, they will already have her isolette and all of their testing equipment in the room with us, so I can keep an eye on her the whole time. Typically in a situation like this, the baby would be whisked away to the interior part of the hospital for testing, the dad goes with the baby to give consent, and the mom is left alone. Again, I was (and still am) very grateful for the setting they were preparing for me.

And that was pretty much the whole meeting. We ended by asking Dr. Mackowiak about his education, and learned that he did his undergraduate work at UGA! His wife and I even went to the same college of education. We also asked if he had any experience with Heterotaxy, which he, personally, did not. Professionally, however, he had received training on this rare syndrome during residency in Tennessee from his professor who is now the program director for Boston Children's Hospital, which is known to have the best program and wraparound care for complex Heterotaxy cases. This made us feel much more at ease!

Jumping forward in time, about a week later, I received a call from Sabrina, our genetic counselor. She had finally received the last part of our genetic testing results, and Ruth's information was showing up completely normal! I was ecstatic and joyful and thankful to God for these results, but also confused at the same time. Apparently, Heterotaxy can be inherited, or completely spontaneous, but it doesn't change the fact that it is a mix up within her genes. So in Ruth's case, her Heterotaxy Syndrome is completely spontaneous; she did not inherit "bad" genes from either of us, and it does not increase the likelihood of any additional children having this issue, either. This was such an answered prayer because of our history. Because only 1 of 3 of my pregnancies has been healthy, you begin to wonder if you are bringing something wrong to the table, so to speak. Having a miscarriage, a healthy baby, and a rare syndrome baby within four years really makes you wonder what is going on with your genetic code, but this is just our story. I have grieved over what I thought our family would look like; that picture-perfect expectation and then hard-hitting reality can sometimes be a sucker punch. BUT, I have to trust that my family looks exactly how God wants it to look. I will trust that all of this is purposeful, and that His plans are so much better, higher, and broader than mine.

He has proven that over and over again, so I'm not going to stop trusting Him now.

A lot of people have asked how they can help us during this time, and the biggest thing that we need is prayer. Through prayer, Ruth has jumped from a mid-30s growth percentile to the 50th, which helps me stay away from a super early induction! Please keep praying for baby Ruth, for our family, and for God to give us wisdom, peace, and rest. I am so tired, mentally and physically, and I know that prayers will keep our eyes and faith on God to provide all that we need.

Additionally, people have asked how to help us financially. With the encouragement from a friend, we set up a Venmo account in Ruth's name. If you would like to donate (anything and everything helps, truly), we are incredibly grateful and humbled that you would help us like that. Her Venmo handle is @babyruthlee, and every dollar goes towards her medical bills. Thank you all so much for following along, and for praying with us as we get closer to delivery. We are down to about a month from induction at my time of posting this!